Canonical Allele Identifier: CA2184872908

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211880G= , CM000677.2:g.68211880G=	GRCh38
NC_000015.9:g.68504218G= , CM000677.1:g.68504218G=	GRCh37
NC_000015.8:g.66291272G=	NCBI36
NG_008764.2:g.50332C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-17C= MANE Select	ENSP00000249806.5:n.298-17C=
ENST00000562767.2:c.84-14252C=	ENSP00000456336.1:n.84-14252C=
ENST00000563917.2:n.140-17C=
ENST00000565471.6:c.84-2121C=	ENSP00000457384.1:n.84-2121C=
ENST00000635747.1:c.*201-17C=	ENSP00000490627.1:n.*201-17C=
ENST00000636212.1:c.298-139C=	ENSP00000489851.1:n.298-139C=
ENST00000636314.1:c.183-562C=	ENSP00000490295.1:n.183-562C=
ENST00000636674.1:n.1264C=
ENST00000636964.1:n.1453C=
ENST00000637054.1:c.198+6656C=	ENSP00000490807.1:n.198+6656C=
ENST00000637223.1:c.*201-562C=	ENSP00000490010.1:n.*201-562C=
ENST00000637329.1:c.250C=
ENST00000637450.1:c.183-17C=	ENSP00000490204.1:n.183-17C=
ENST00000637494.1:c.199-562C=	ENSP00000490057.1:n.199-562C=
ENST00000637667.1:c.199-17C=	ENSP00000489843.1:n.199-17C=
ENST00000637823.1:c.224-237C=
ENST00000637888.1:c.198+6656C=	ENSP00000490546.1:n.198+6656C=
ENST00000638076.1:c.298-17C=	ENSP00000490373.1:n.298-17C=
ENST00000638144.1:n.130-562C=
ENST00000646164.1:c.38+6656C=
ENST00000249806.9:c.298-17C=	ENSP00000249806.5:n.298-17C=
ENST00000538696.5:c.394-17C=	ENSP00000445770.1:n.394-17C=
ENST00000562767.1:c.84-14252C=	ENSP00000456336.1:n.84-14252C=
ENST00000563917.1:n.79-17C=
ENST00000564752.1:c.298-17C=	ENSP00000457822.1:n.298-17C=
ENST00000565471.5:c.84-2121C=	ENSP00000457384.1:n.84-2121C=
ENST00000566347.5:c.298-562C=	ENSP00000457783.1:n.298-562C=
ENST00000567060.5:c.298-2160C=	ENSP00000454818.1:n.298-2160C=
NM_017882.2:c.298-17C=	NP_060352.1:n.298-17C=
XR_931861.1:n.401-17C=
NM_017882.3:c.298-17C= MANE Select	NP_060352.1:n.298-17C=